Bone scintigraphy leading to diagnosis of malignant osteopetrosis in a six-year-old boy

Introduction. - Osteopetrosis is a rare disease but early detection is essential for future improvement of quality of life. Despite X-ray can be a diagnostic examination itself, bone scintigraphy can be helpful when the radiographic imaging is not typical. Case report. - We report a case of a 6-year-old boy with pain and limping of the left lower limb persisting 4 months after a left ankle sprain. He underwent a whole-body bone scintigraphy with HDP-99mTc and overlapping image focused on the hip, which showed abnormal increased diffuse uptake in proximal and distal epiphysis of femurs and tibias showing higher uptake in femurs. It also showed, involvement of proximal epiphysis of humerus. Kidneys were not visible, suggesting bone superscan. Differential diagnosis was recommended with osteopetrosis, osteomalacy. Conclusion. - Bone scintigraphy can contribute for extensive skeletal evaluation and patients follow-up. Thus, bone scintigraphy may be useful in symptomatic and in asymptomatic patients with OP. (C) 2017 Elsevier Masson SAS. All rights reserved.